Have questions? Visit https://www.reddit.com/r/SNPedia

rs371707778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs371707778(A;A)
Make rs371707778(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position92717947
GeneBICD2
is asnp
is mentioned by
dbSNPrs371707778
ClinGenrs371707778
ebirs371707778
HLIrs371707778
Exacrs371707778
Varsomers371707778
Maprs371707778
PheGenIrs371707778
hapmaprs371707778
1000 genomesrs371707778
hgdprs371707778
ensemblrs371707778
gopubmedrs371707778
geneviewrs371707778
scholarrs371707778
googlers371707778
pharmgkbrs371707778
gwascentralrs371707778
openSNPrs371707778
23andMers371707778
23andMe allrs371707778
SNP Nexus

SNPshotrs371707778
SNPdbers371707778
MSV3drs371707778
GWAS Ctlgrs371707778
Max Magnitude0
ClinVar
Risk rs371707778(A;A)
Alt rs371707778(A;A)
Reference Rs371707778(G;G)
Significance Pathogenic
Disease Spinal muscular atrophy
Variation info
Gene BICD2
CLNDBN Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant
Reversed 0
HGVS NC_000009.11:g.95480229G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000049275.2,